| Type | Description |
|---|---|
| Definition | N-glycanase 1 |
| Date | Results | Publications |
|---|---|---|
| 2020-12-19 13:45:00 | Congenital disorder of deglycosylation associated with N-glycanse 1 deficiency", trans "Wrodzone zaburzenie deglikozylacji zwiazane z deficytem N-glikanazy 1. | 33320481 |
| 2020-10-10 13:02:00 | Novel NGLY1 gene variants in Chinese children with global developmental delay, microcephaly, hypotonia, hypertransaminasemia, alacrimia, and feeding difficulty. | 31965062 |
| 2020-09-26 13:06:00 | N-Glycanase 1 Transcriptionally Regulates Aquaporins Independent of Its Enzymatic Activity. | 31875565 |
| 2018-11-17 11:54:00 | Across these distinct evolutionary models of cytosolic NGLY1 deficiency, a consistent disruption of mitochondrial physiology was present involving modestly reduced mitochondrial content with more pronounced impairment of mitochondrial membrane potential, increased mitochondrial matrix oxidant burden, and reduced cellular respiratory capacity. | 28750948 |
| 2017-12-16 10:30:00 | Our prospective phenotyping expands the clinical spectrum of NGLY1-CDDG, offers prognostic information, and provides baseline data for evaluating therapeutic interventions | 27388694 |
| Type | IDs |
|---|---|
| Synonymous | CDDG, CDG1V, PNG1, PNGase |
| Gene |
UniProtKB-ID:
NGLY1_HUMAN
UniprotKB:
Q96IV0
UniParc:
UPI0000001239,
UPI0000DD0956,
UPI0000DD0957,
UPI000013ED99,
UPI00017A7202
EMBL:
BC017220,
AB209549,
AK296047,
AF250924,
AC092798,
BC000963,
BC007226
Ensembl:
ENSG00000151092
KO:
hsa:55768
|
| Nucleutide sequences |
EMBL-CDS:
AAF74720.2,
AAH07226.1,
AAH00963.1,
BAD92786.1,
BAG58811.1,
AAH17220.1
Ensembl_TRS:
ENST00000417874,
ENST00000428257,
ENST00000280700,
ENST00000396649
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000389888,
ENSP00000280700,
ENSP00000387430,
ENSP00000379886
RefSeq:
XP_005265374.1,
NP_060767.2,
XP_011532246.1,
NP_001138765.1,
NP_001138766.1,
XP_016862328.1,
NP_001138767.1,
XP_005265373.1
|
| Others |
UniRef100:
UniRef100_Q96IV0
UniRef90:
UniRef90_Q96IV0
UniRef50:
UniRef50_Q96IV0
UniGene:
Hs.368960
CCDS:
CCDS46778.1,
CCDS46777.1,
CCDS33719.1,
CCDS46779.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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